| Nomenclature |
HGNC (Hugo) | GTF2H1 4655 |
| Cards |
Entrez_Gene (NCBI) | GTF2H1 2965 general transcription factor IIH subunit 1 |
Aliases | BTF2; P62; TFB1; TFIIH |
GeneCards (Weizmann) | GTF2H1 |
Ensembl hg19 (Hinxton) | ENSG00000110768 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000110768 [Gene_View]  ENSG00000110768 [Sequence] chr11:18322269-18367043 [Contig_View] GTF2H1 [Vega] |
ICGC DataPortal | ENSG00000110768 |
TCGA cBioPortal | GTF2H1 |
AceView (NCBI) | GTF2H1 |
Genatlas (Paris) | GTF2H1 |
WikiGenes | 2965 |
SOURCE (Princeton) | GTF2H1 |
Genetics Home Reference (NIH) | GTF2H1 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | GTF2H1 - chr11:18322269-18367043 + 11p15.1 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | GTF2H1 - 11p15.1 [Description] (hg19-Feb_2009) |
GoldenPath | GTF2H1 - 11p15.1 [CytoView hg19] GTF2H1 - 11p15.1 [CytoView hg38] |
ImmunoBase | ENSG00000110768 |
Mapping of homologs : NCBI | GTF2H1 [Mapview hg19] GTF2H1 [Mapview hg38] |
OMIM | 189972 |
| Gene and transcription |
Genbank (Entrez) | AI275181 AK027003 AK127204 AK299621 AK299730 |
RefSeq transcript (Entrez) | NM_001142307 NM_005316 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | GTF2H1 |
Cluster EST : Unigene | Hs.577202 [ NCBI ] |
CGAP (NCI) | Hs.577202 |
Alternative Splicing Gallery | ENSG00000110768 |
Gene Expression | GTF2H1 [ NCBI-GEO ] GTF2H1 [ EBI - ARRAY_EXPRESS ]
GTF2H1 [ SEEK ] GTF2H1 [ MEM ] |
Gene Expression Viewer (FireBrowse) | GTF2H1 [ Firebrowse - Broad ] |
SOURCE (Princeton) | Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60] |
Genevestigator | Expression in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 2965 |
GTEX Portal (Tissue expression) | GTF2H1 |
Human Protein Atlas | ENSG00000110768-GTF2H1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | P32780 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | P32780 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | P32780 |
Splice isoforms : SwissVar | P32780 |
PhosPhoSitePlus | P32780 |
Domaine pattern : Prosite (Expaxy) | BSD (PS50858) |
Domains : Interpro (EBI) | BSD_dom PH-like_dom_sf Tfb1/GTF2H1 TFIIH_BTF_p62_N |
Domain families : Pfam (Sanger) | BSD (PF03909) PH_TFIIH (PF08567) |
Domain families : Pfam (NCBI) | pfam03909 pfam08567 |
Domain families : Smart (EMBL) | BSD (SM00751) |
Conserved Domain (NCBI) | GTF2H1 |
DMDM Disease mutations | 2965 |
Blocks (Seattle) | GTF2H1 |
PDB (RSDB) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
PDB Europe | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
PDB (PDBSum) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
PDB (IMB) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
Structural Biology KnowledgeBase | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
SCOP (Structural Classification of Proteins) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
CATH (Classification of proteins structures) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
Superfamily | P32780 |
Human Protein Atlas [tissue] | ENSG00000110768-GTF2H1 [tissue] |
Peptide Atlas | P32780 |
HPRD | 01807 |
IPI | IPI00030380 IPI00908648 IPI00976467 IPI01025365 IPI00977011 IPI00983928 IPI01011880 |
| Protein Interaction databases |
DIP (DOE-UCLA) | P32780 |
IntAct (EBI) | P32780 |
FunCoup | ENSG00000110768 |
BioGRID | GTF2H1 |
STRING (EMBL) | GTF2H1 |
ZODIAC | GTF2H1 |
| Ontologies - Pathways |
QuickGO | P32780 |
Ontology : AmiGO | regulation of cyclin-dependent protein serine/threonine kinase activity transcription factor TFIIH core complex nucleotide-excision repair, DNA duplex unwinding chromatin binding protein kinase activity protein binding nucleoplasm nucleoplasm transcription factor TFIIH holo complex transcription factor TFIIH holo complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion transcription by RNA polymerase I transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription by RNA polymerase II transcription by RNA polymerase II transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping DNA-dependent ATPase activity DNA-dependent ATPase activity RNA polymerase II CTD heptapeptide repeat kinase activity RNA polymerase II CTD heptapeptide repeat kinase activity nucleotide-excision repair, DNA incision positive regulation of transcription by RNA polymerase II phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair |
Ontology : EGO-EBI | regulation of cyclin-dependent protein serine/threonine kinase activity transcription factor TFIIH core complex nucleotide-excision repair, DNA duplex unwinding chromatin binding protein kinase activity protein binding nucleoplasm nucleoplasm transcription factor TFIIH holo complex transcription factor TFIIH holo complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion transcription by RNA polymerase I transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription by RNA polymerase II transcription by RNA polymerase II transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping DNA-dependent ATPase activity DNA-dependent ATPase activity RNA polymerase II CTD heptapeptide repeat kinase activity RNA polymerase II CTD heptapeptide repeat kinase activity nucleotide-excision repair, DNA incision positive regulation of transcription by RNA polymerase II phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair |
Pathways : KEGG | Basal transcription factors Nucleotide excision repair Viral carcinogenesis |
NDEx Network | GTF2H1 |
Atlas of Cancer Signalling Network | GTF2H1 |
Wikipedia pathways | GTF2H1 |
| Orthology - Evolution |
OrthoDB | 2965 |
GeneTree (enSembl) | ENSG00000110768 |
Phylogenetic Trees/Animal Genes : TreeFam | GTF2H1 |
HOGENOM | P32780 |
Homologs : HomoloGene | GTF2H1 |
Homology/Alignments : Family Browser (UCSC) | GTF2H1 |
| Gene fusions - Rearrangements |
Fusion : Mitelman | GAREM/GTF2H1 [18q12.1/11p15.1]  [t(11;18)(p15;q12)] |
Fusion : Mitelman | GTF2H1/HPS5 [11p15.1/11p15.1]  [t(11;11)(p15;p15)] |
Fusion : Mitelman | TNPO1/GTF2H1 [5q13.2/11p15.1]  [t(5;11)(q13;p15)] |
Fusion Portal | FAM59A GTF2H1 11p15.1 BRCA |
Fusion Portal | GTF2H1 11p15.1 HPS5 11p15.1 BRCA |
Fusion Portal | TNPO1 5q13.2 GTF2H1 11p15.1 BRCA |
Fusion : Quiver | GTF2H1 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | GTF2H1 [hg38] |
dbSNP Single Nucleotide Polymorphism (NCBI) | GTF2H1 |
dbVar | GTF2H1 |
ClinVar | GTF2H1 |
1000_Genomes | GTF2H1 |
Exome Variant Server | GTF2H1 |
ExAC (Exome Aggregation Consortium) | ENSG00000110768 |
GNOMAD Browser | ENSG00000110768 |
Varsome Browser | GTF2H1 |
Genetic variants : HAPMAP | 2965 |
Genomic Variants (DGV) | GTF2H1 [DGVbeta] |
DECIPHER | GTF2H1 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | GTF2H1 |
| Mutations |
ICGC Data Portal | GTF2H1 |
TCGA Data Portal | GTF2H1 |
Broad Tumor Portal | GTF2H1 |
OASIS Portal | GTF2H1 [ Somatic mutations - Copy number] |
Somatic Mutations in Cancer : COSMIC | GTF2H1 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | GTF2H1 |
Mutations and Diseases : HGMD | GTF2H1 |
LOVD (Leiden Open Variation Database) | Whole genome datasets |
LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
BioMuta | search GTF2H1 |
DgiDB (Drug Gene Interaction Database) | GTF2H1 |
DoCM (Curated mutations) | GTF2H1 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | GTF2H1 (select a term) |
intoGen | GTF2H1 |
Cancer3D | GTF2H1(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
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OMIM | 189972 |
Orphanet | |
DisGeNET | GTF2H1 |
Medgen | GTF2H1 |
Genetic Testing Registry | GTF2H1
|
NextProt | P32780 [Medical] |
TSGene | 2965 |
GENETests | GTF2H1 |
Target Validation | GTF2H1 |
Huge Navigator |
GTF2H1 [HugePedia] |
snp3D : Map Gene to Disease | 2965 |
BioCentury BCIQ | GTF2H1 |
ClinGen | GTF2H1 |
| Clinical trials, drugs, therapy |
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Chemical/Protein Interactions : CTD | 2965 |
Chemical/Pharm GKB Gene | PA29041 |
Clinical trial | GTF2H1 |
| Miscellaneous |
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canSAR (ICR) | GTF2H1 (select the gene name) |
DataMed Index | GTF2H1 |
| Probes |
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| Litterature |
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PubMed | 132 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
CoreMine | GTF2H1 |
EVEX | GTF2H1 |
GoPubMed | GTF2H1 |
iHOP | GTF2H1 |